title: Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia.
abstract: Variation within intron 19 of the CLEC16A (KIAA0350) gene region was recently found to be unequivocally associated with type 1 diabetes (T1D) in genome-wide association (GWA) studies in Northern European populations. A variant in intron 22 that is nearly independent of the intron 19 variant showed suggestive evidence of association with multiple sclerosis (MS). Here, we genotyped the rs725613 polymorphism, representative of the earlier reported associations with T1D within CLEC16A, in 1037 T1D cases, 1498 MS cases and 1706 matched controls, all from the founder, autoimmunity-prone Sardinian population. In these Sardinian samples, allele A of rs725613 is positively associated not only with T1D (odds ratio=1.15, P one-tail=5.1 x 10(-3)) but also, and with a comparable effect size, with MS (odds ratio=1.21, P one-tail 6.7 x 10(-5)). Taken together these data provide evidence of joint disease association in T1D and MS within CLEC16A and underline a shared disease pathway.
authors.affiliation: Dipartimento di Scienze Biomediche, University of Sassari, Sassari, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Zoledziewska
authors.forename: G
authors.initials: G
authors.lastname: Costa
authors.forename: M
authors.initials: M
authors.lastname: Pitzalis
authors.forename: E
authors.initials: E
authors.lastname: Cocco
authors.forename: C
authors.initials: C
authors.lastname: Melis
authors.forename: L
authors.initials: L
authors.lastname: Moi
authors.forename: P
authors.initials: P
authors.lastname: Zavattari
authors.forename: R
authors.initials: R
authors.lastname: Murru
authors.forename: R
authors.initials: R
authors.lastname: Lampis
authors.forename: L
authors.initials: L
authors.lastname: Morelli
authors.forename: F
authors.initials: F
authors.lastname: Poddie
authors.forename: P
authors.initials: P
authors.lastname: Frongia
authors.forename: P
authors.initials: P
authors.lastname: Pusceddu
authors.forename: M
authors.initials: M
authors.lastname: Bajorek
authors.forename: A
authors.initials: A
authors.lastname: Marras
authors.forename: A M
authors.initials: AM
authors.lastname: Satta
authors.forename: A
authors.initials: A
authors.lastname: Chessa
authors.forename: M
authors.initials: M
authors.lastname: Pugliatti
authors.forename: S
authors.initials: S
authors.lastname: Sotgiu
authors.forename: M B
authors.initials: MB
authors.lastname: Whalen
authors.forename: G
authors.initials: G
authors.lastname: Rosati
authors.forename: F
authors.initials: F
authors.lastname: Cucca
authors.forename: M G
authors.initials: MG
authors.lastname: Marrosu
mesh_terms: D000328:Adult; D017668:Age of Onset; D000483:Alleles; D016022:Case-Control Studies; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005190:Family; D005260:Female; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D006801:Humans; D007558:Italy; D037181:Lectins, C-Type / Q000235:genetics*; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000235:genetics*; D009103:Multiple Sclerosis / Q000235:genetics*; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D011336:Probability
chemical_list: C522505:CLEC16A protein, human; D037181:Lectins, C-Type; D009004:Monosaccharide Transport Proteins